{"id":"W4411989775","doi":"10.1002/jimd.70057","title":"Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases","year":2025,"lang":"en","type":"review","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Newborn screening; Disease; Metabolic disease; Medicine; Asymptomatic; Biotinidase deficiency; Pediatrics; Internal medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01084771,0.0007063003,0.001291421,0.001124423,0.002422804,0.004309563,0.001526573,0.01074536,0.01121051],"category_scores_gemma":[0.0233499,0.0003697195,0.001197515,0.0008341483,0.003134994,0.007016133,0.004066445,0.01253245,0.002198389],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003764874,"about_ca_system_score_gemma":0.007546669,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00612353,"about_ca_topic_score_gemma":0.01480342,"domain_scores_codex":[0.9950341,0.002620259,0.000286303,0.0004586459,0.0008503573,0.0007502996],"domain_scores_gemma":[0.9659895,0.01404796,0.001095102,0.0005189805,0.006086779,0.01226171],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0004456962,0.0003152081,0.01372291,0.001807611,0.0001481993,0.003074543,0.003914131,0.0003308342,0.0007342664,0.03681744,0.5912183,0.3474709],"study_design_scores_gemma":[0.0001693686,0.0006120712,0.01344793,0.01416421,0.0001814246,0.00516921,0.01284509,0.000337579,0.0003575411,0.04105967,0.9114684,0.0001875427],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"review","genre_scores_codex":[0.003222874,0.1209189,0.0005870617,0.8605798,0.006916776,0.00001007934,0.0001647051,0.00003504407,0.007564706],"genre_scores_gemma":[0.05519292,0.3437671,0.003546481,0.5650933,0.02725755,0.00009753725,0.0003033063,0.00007489554,0.004666875],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.01121051,"threshold_uncertainty_score":0.05736887,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03447686396329945,"score_gpt":0.3377064726064904,"score_spread":0.303229608643191,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}